I suspect I may have Down syndrome based on physical traits (epicanthic folds, simian crease, sandal gap deformity), delayed walking (18 months), and childhood obesity. However, multiple psychiatrists suggest hypochondriasis due to my history of serial health anxieties, including past concerns about essential tremors, ADHD, autism, and a brain tumor. A recent karyotype test showed a “normal karyotype,” but the lack of NABL accreditation makes me doubt the results. I’m unsure if I have Down syndrome or if this is another psychosomatic concern. Please help clarify.
I'll attach the report of karyotyping
Answers (8)
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As per my opinion, you should not worry regarding the diagnosis confirmation of Down Syndrome as karyotype test is normal and these physical features that you have mentioned are also a variation of human body
* Important point is that you must consult a Psychiatrist or continue follow up of a psychiatrist to whom you can trust for management of anxiety regarding physical concerns as it is causing distress to you
* Medications with relaxation exercises, (JPMR) should be continued for holistic management
Hello Sir
A down syndrome patients will most probably have a lower IQ and not able to explain the way nicely you have explained your concerns
And also with multiple issues you have in previously
It better to consult and take adequate management
Next Steps
kindly consult online for further management and treatment
Im sure that you dont have the condition because as you have already done the karyotyping . They may be the ruminating thoughts that keep coming back .
To consider Down’s syndrome diagnosis the karyotyping should be must, if that’s normal in rare cases there should be at least 6 or more features of Down syndrome to consider the same..
these might be just rumination of thoughts about illness and needs further evaluation, treatment and therapy from psychiatrist
Thank you for sharing your concerns so openly — it takes courage to speak about personal health anxieties, and I want to acknowledge your distress and the effort you're making to understand your condition.
Based on what you’ve described, it’s clear that you are observant and actively trying to make sense of your symptoms. However, a diagnosis like Down syndrome is typically confirmed early in life, often based on both clinical features and chromosomal testing (karyotyping). If your recent karyotype report indicates a normal chromosomal pattern (46,XY), it essentially rules out Down syndrome, which is caused by an extra copy of chromosome 21 (Trisomy 21).
Regarding your concerns about the lab’s lack of NABL accreditation, while accreditation adds credibility, a normal karyotype from a competent lab is still a strong indicator that Trisomy 21 is not present.
You also mentioned a history of repeated health-related anxieties, including fears of various unrelated medical conditions. This pattern may point toward health anxiety (formerly called hypochondriasis) — a condition where individuals persistently worry about having a serious illness despite medical reassurance.
Here’s what I suggest:
1. Share the karyotyping report with a clinical geneticist or a psychiatrist experienced in somatic symptom disorders for a second opinion, if that would reassure you.
2. Consider working with a mental health professional trained in CBT (Cognitive Behavioral Therapy), which is effective for managing health anxiety.
3. Stay connected with a primary care physician or psychiatrist who can help distinguish between physical and psychological symptoms in a supportive way.
You are not alone in feeling this way, and there is help available to reduce the distress you're experiencing. I encourage you to seek a structured evaluation — both physical and psychological — so that you can find clarity and relief.
Your self-observation of physical features like epicanthic folds, simian crease, and sandal gap is noted. However, isolated presence of these features does not confirm Down syndrome, as they can also be found in individuals without chromosomal abnormalities. What really matters in diagnosing Down syndrome is karyotyping, which checks for an extra copy of chromosome 21. You mentioned your karyotype report showed a normal result, meaning no trisomy 21 was detected. Even if the lab wasnât NABL-accredited, a normal karyotype essentially rules out classical Down syndrome. Also, most individuals with Down syndrome would show more widespread developmental and cognitive delays beyond what youâve described. Given your long history of shifting health anxieties (from tremors to ADHD to now Down syndrome), your psychiatrists' suggestion of hypochondriasis or health anxiety is likely accurate. This doesnât invalidate your experienceâbut reframes it so you can get the right kind of help.
Next Steps
Rather than repeat karyotyping, speak to your psychiatrist about Cognitive Behavioral Therapy (CBT) tailored for health anxiety. It helps you differentiate between real and perceived illness. If doubts persist, you may consider getting a genetic counselorâs opinion, which might reassure you with a clinical evaluation alongside your existing karyotype. Donât pursue repeated testsâthis fuels the anxiety cycle and doesnât bring lasting clarity.
Health Tips
Start a health log where you document your worries and how they evolve over time. This will help you and your therapist spot patterns of health-related anxiety. Keep your lifestyle well-supported: eat omega-3-rich foods, get good sleep, and avoid excessive Googling of symptoms. Try grounding techniques when the fears spikeâlike the 5-4-3-2-1 technique or box breathing. You're not aloneâhealth anxiety is real and treatable, and youâre already on the right path by asking the hard questions.
Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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